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    XPNPEP1 X-prolyl aminopeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 7511, updated on 3-Dec-2024

    Summary

    Official Symbol
    XPNPEP1provided by HGNC
    Official Full Name
    X-prolyl aminopeptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:12822
    See related
    Ensembl:ENSG00000108039 MIM:602443; AllianceGenome:HGNC:12822
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APP1; SAMP; XPNPEP; XPNPEPL; XPNPEPL1
    Summary
    This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]
    Expression
    Ubiquitous expression in small intestine (RPKM 32.0), duodenum (RPKM 25.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See XPNPEP1 in Genome Data Viewer
    Location:
    10q25.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (109864766..109923511, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (110748625..110807363, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (111624524..111683269, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111422680-111423180 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:111435820-111437019 Neighboring gene X-linked inhibitor of apoptosis pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111560913-111561413 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:111585419-111585920 Neighboring gene ribosomal protein L21 pseudogene 91 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3996 Neighboring gene RNA, U4 small nuclear 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3997 Neighboring gene NANOG hESC enhancer GRCh37_chr10:111672994-111673649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3998 Neighboring gene ADD3 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr10:111747103-111747604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:111766387-111766942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:111766943-111767496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:111774137-111774942 Neighboring gene Sharpr-MPRA regulatory region 15659 Neighboring gene adducin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4004 Neighboring gene Sharpr-MPRA regulatory region 905 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 12

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloaminopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bradykinin catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of programmed cell death IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    xaa-Pro aminopeptidase 1
    Names
    X-Pro aminopeptidase 1
    X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
    X-prolyl aminopeptidase 1, soluble
    aminoacylproline aminopeptidase
    aminopeptidase P, cytosolic
    cytosolic aminopeptidase P
    soluble aminopeptidase P
    NP_001161076.1
    NP_001311057.1
    NP_001311060.1
    NP_001311061.1
    NP_001311062.1
    NP_001311063.1
    NP_001311064.1
    NP_001311065.1
    NP_065116.3
    XP_011538436.1
    XP_016872102.1
    XP_047281669.1
    XP_047281670.1
    XP_054222659.1
    XP_054222660.1
    XP_054222661.1
    XP_054222662.1
    XP_054222663.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001167604.2NP_001161076.1  xaa-Pro aminopeptidase 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes isoform 2.
      Source sequence(s)
      AL833411, BC005126, DA484161
      Consensus CDS
      CCDS53576.1
      UniProtKB/TrEMBL
      B3KSI7
      Related
      ENSP00000324011.8, ENST00000322238.12
      Conserved Domains (5) summary
      COG0006
      Location:239585
      PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
      cd01085
      Location:372570
      APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
      pfam16188
      Location:576638
      Peptidase_M24_C; C-terminal region of peptidase_M24
      pfam16189
      Location:207369
      Creatinase_N_2; Creatinase/Prolidase N-terminal domain
      cl23800
      Location:53197
      Creatinase_N; Creatinase/Prolidase N-terminal domain
    2. NM_001324128.2NP_001311057.1  xaa-Pro aminopeptidase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL354951
      Consensus CDS
      CCDS81498.1
      UniProtKB/TrEMBL
      B3KSI7, Q5T6H7
      Related
      ENSP00000358697.1, ENST00000369683.5
      Conserved Domains (3) summary
      cd01085
      Location:258480
      APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
      pfam16188
      Location:486548
      Peptidase_M24_C; C-terminal region of peptidase_M24
      pfam16189
      Location:86255
      Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    3. NM_001324131.2NP_001311060.1  xaa-Pro aminopeptidase 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL354951
      UniProtKB/TrEMBL
      B3KSI7
    4. NM_001324132.2NP_001311061.1  xaa-Pro aminopeptidase 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL354951
      UniProtKB/Swiss-Prot
      A8K071, G5E9Y2, G8JLB2, O15250, Q53EX6, Q8N3Q0, Q96D23, Q9NQW7
      UniProtKB/TrEMBL
      B3KSI7
      Conserved Domains (4) summary
      cd01085
      Location:329551
      APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
      pfam16188
      Location:557619
      Peptidase_M24_C; C-terminal region of peptidase_M24
      pfam16189
      Location:157326
      Creatinase_N_2; Creatinase/Prolidase N-terminal domain
      cl23800
      Location:10154
      Creatinase_N; Creatinase/Prolidase N-terminal domain
    5. NM_001324133.2NP_001311062.1  xaa-Pro aminopeptidase 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL354951
      Conserved Domains (5) summary
      COG0006
      Location:239609
      PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
      cd01085
      Location:372594
      APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
      pfam16188
      Location:600627
      Peptidase_M24_C; C-terminal region of peptidase_M24
      pfam16189
      Location:207369
      Creatinase_N_2; Creatinase/Prolidase N-terminal domain
      cl23800
      Location:53197
      Creatinase_N; Creatinase/Prolidase N-terminal domain
    6. NM_001324134.2NP_001311063.1  xaa-Pro aminopeptidase 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL354951
      UniProtKB/TrEMBL
      B3KSI7
      Conserved Domains (3) summary
      cd01085
      Location:198420
      APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
      pfam16188
      Location:426488
      Peptidase_M24_C; C-terminal region of peptidase_M24
      pfam16189
      Location:26195
      Creatinase_N_2; Creatinase/Prolidase N-terminal domain
    7. NM_001324135.2NP_001311064.1  xaa-Pro aminopeptidase 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL354951
      UniProtKB/TrEMBL
      B3KSI7
    8. NM_001324136.1NP_001311065.1  xaa-Pro aminopeptidase 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL354951
      UniProtKB/TrEMBL
      B3KSI7
    9. NM_020383.4NP_065116.3  xaa-Pro aminopeptidase 1 isoform 1

      See identical proteins and their annotated locations for NP_065116.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC007579, DA484161
      Consensus CDS
      CCDS7560.2
      UniProtKB/TrEMBL
      B3KSI7
      Related
      ENSP00000421566.1, ENST00000502935.6
      Conserved Domains (5) summary
      COG0006
      Location:239609
      PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
      cd01085
      Location:372594
      APP; X-Prolyl Aminopeptidase 2. E.C. 3.4.11.9. Also known as X-Pro aminopeptidase, proline aminopeptidase, aminopeptidase P, and aminoacylproline aminopeptidase. Catalyses release of any N-terminal amino acid, including proline, that is linked with proline, ...
      pfam16188
      Location:600662
      Peptidase_M24_C; C-terminal region of peptidase_M24
      pfam16189
      Location:207369
      Creatinase_N_2; Creatinase/Prolidase N-terminal domain
      cl23800
      Location:53197
      Creatinase_N; Creatinase/Prolidase N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      109864766..109923511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017016613.3XP_016872102.1  xaa-Pro aminopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      B3KSI7
    2. XM_047425713.1XP_047281669.1  xaa-Pro aminopeptidase 1 isoform X3

      UniProtKB/TrEMBL
      B3KSI7
    3. XM_011540134.3XP_011538436.1  xaa-Pro aminopeptidase 1 isoform X2

      UniProtKB/TrEMBL
      B3KSI7
      Conserved Domains (5) summary
      COG0006
      Location:239551
      PepP; Xaa-Pro aminopeptidase [Amino acid transport and metabolism]
      pfam16188
      Location:542604
      Peptidase_M24_C; C-terminal region of peptidase_M24
      pfam16189
      Location:207369
      Creatinase_N_2; Creatinase/Prolidase N-terminal domain
      cl00279
      Location:372536
      APP_MetAP; A family including aminopeptidase P, aminopeptidase M, and prolidase. Also known as metallopeptidase family M24. This family of enzymes is able to cleave amido-, imido- and amidino-containing bonds. Members exibit relatively narrow substrate specificity ...
      cl23800
      Location:53197
      Creatinase_N; Creatinase/Prolidase N-terminal domain
    4. XM_047425714.1XP_047281670.1  xaa-Pro aminopeptidase 1 isoform X4

      UniProtKB/TrEMBL
      B3KSI7, Q5T6H7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      110748625..110807363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366685.1XP_054222660.1  xaa-Pro aminopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      B3KSI7
    2. XM_054366687.1XP_054222662.1  xaa-Pro aminopeptidase 1 isoform X3

      UniProtKB/TrEMBL
      B3KSI7
    3. XM_054366686.1XP_054222661.1  xaa-Pro aminopeptidase 1 isoform X2

      UniProtKB/TrEMBL
      B3KSI7
    4. XM_054366684.1XP_054222659.1  xaa-Pro aminopeptidase 1 isoform X5

      UniProtKB/Swiss-Prot
      A8K071, G5E9Y2, G8JLB2, O15250, Q53EX6, Q8N3Q0, Q96D23, Q9NQW7
      UniProtKB/TrEMBL
      B3KSI7
    5. XM_054366688.1XP_054222663.1  xaa-Pro aminopeptidase 1 isoform X4

      UniProtKB/TrEMBL
      B3KSI7, Q5T6H7